Living with Autosomal dominant distal renal tubular acidosis
A rare inherited kidney condition in which the kidneys can't remove enough acid from the blood, starting in the teen years or adulthood.
Understanding Autosomal dominant distal renal tubular acidosis
Blood tests show high chloride and too much acid (metabolic acidosis), often with low potassium. It usually starts in adolescence or adulthood. Early signs can include frequent urination, extreme thirst, muscle weakness, and tiredness. Soft or thin bones, extra calcium in the urine, kidney stones, and calcium deposits in the kidneys may develop. GARD says kidney failure has not been described.
Signs & symptoms
GARD doesn't list a symptom list for this condition, but its summary describes these early signs:
- Frequent urination (polyuria)
- Extreme thirst (polydipsia)
- Muscle weakness
- Fatigue
- Kidney stones
- Soft or thin bones (osteomalacia or osteopenia)
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include genetic specialists and kidney specialists.
- 3Consider genetic testing
Changes in SLC4A1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Genetic specialists (geneticists); Kidney specialists (nephrologists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with National Kidney Foundation and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD says changes in the SLC4A1 gene cause this condition. It is autosomal dominant, meaning one changed copy of the gene can be enough to cause it.
Also known as: ad drta; distal renal tubular acidosis (disease), autosomal dominant; drta1; renal tubular acidosis, distal 1; renal tubular acidosis, distal, 1; rta, classic type
Patient organizations
- National Kidney FoundationKidney diseases · United States
- Renal Support NetworkKidney diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Autosomal dominant distal renal tubular acidosis.
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